Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

GAUCHER DISEASE, TYPE II
Synonyms

GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE

GD2

GD II
ID

http://purl.bioontology.org/ontology/OMIM/230900
altLabel

GAUCHER DISEASE, ACUTE NEURONOPATHIC TYPE

GD2

GD II
cui

C0268250
Gene Locus

1q21
Gene Symbol

GBA
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000629

http://purl.bioontology.org/ontology/OMIM/MTHU012824

http://purl.bioontology.org/ontology/OMIM/MTHU001744

http://purl.bioontology.org/ontology/OMIM/MTHU000300

http://purl.bioontology.org/ontology/OMIM/MTHU037462

http://purl.bioontology.org/ontology/OMIM/MTHU012821

http://purl.bioontology.org/ontology/OMIM/MTHU001188

http://purl.bioontology.org/ontology/OMIM/MTHU000316

http://purl.bioontology.org/ontology/OMIM/MTHU005728

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU012819

http://purl.bioontology.org/ontology/OMIM/MTHU036443

http://purl.bioontology.org/ontology/OMIM/MTHU012828

http://purl.bioontology.org/ontology/OMIM/MTHU012820

http://purl.bioontology.org/ontology/OMIM/MTHU000389

http://purl.bioontology.org/ontology/OMIM/MTHU010423

http://purl.bioontology.org/ontology/OMIM/MTHU000301

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU012847

http://purl.bioontology.org/ontology/OMIM/MTHU012826

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU012822

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU001330

http://purl.bioontology.org/ontology/OMIM/MTHU000140

http://purl.bioontology.org/ontology/OMIM/MTHU061436

http://purl.bioontology.org/ontology/OMIM/MTHU002586

http://purl.bioontology.org/ontology/OMIM/MTHU003771

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU009452

http://purl.bioontology.org/ontology/OMIM/MTHU002606
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

230900
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

GAUCHER DISEASE, TYPE II
Scope Statement

Onset between 3 and 6 months of age [MISCELLANEOUS]

See also perinatal lethal variant (608013), which is more severe [MISCELLANEOUS]

Caused by mutation in the acid beta-glucosidase gene (GBA, 606463.0001) [MOLECULAR BASIS]

See also Gaucher disease type III (231000), which is much less severe [MISCELLANEOUS]

Death often by age 2 years [MISCELLANEOUS]
tui

T047
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